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Scn5a sodium channel, voltage-gated, type V, alpha [ Mus musculus (house mouse) ]

Gene ID: 20271, updated on 12-May-2024

Summary

Official Symbol
Scn5aprovided by MGI
Official Full Name
sodium channel, voltage-gated, type V, alphaprovided by MGI
Primary source
MGI:MGI:98251
See related
Ensembl:ENSMUSG00000032511 AllianceGenome:MGI:98251
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mH1; SkM1; SkM2; Nav1.5; Nav1.5c
Summary
Enables scaffold protein binding activity and voltage-gated sodium channel activity involved in SA node cell action potential. Acts upstream of or within several processes, including cardiac muscle cell action potential involved in contraction; regulation of heart contraction; and sodium ion import across plasma membrane. Located in several cellular components, including T-tubule; intercalated disc; and lateral plasma membrane. Part of sodium channel complex. Is expressed in several structures, including cranial ganglion; epidermis; heart; sensory organ; and skeleton. Used to study Brugada syndrome 1; dilated cardiomyopathy 1E; long QT syndrome 3; progressive familial heart block type IA; and sick sinus syndrome. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Orthologous to human SCN5A (sodium voltage-gated channel alpha subunit 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 37.1) and lung adult (RPKM 3.7) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Location:
9 F3; 9 71.33 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (119312470..119408096, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (119483404..119579030, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene activin receptor IIB Neighboring gene STARR-positive B cell enhancer mm9_chr9:119353850-119354151 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119374205-119374506 Neighboring gene exo/endonuclease G Neighboring gene STARR-seq mESC enhancer starr_25473 Neighboring gene STARR-seq mESC enhancer starr_25474 Neighboring gene STARR-seq mESC enhancer starr_25475 Neighboring gene sodium channel, voltage-gated, type X, alpha Neighboring gene STARR-seq mESC enhancer starr_25476 Neighboring gene STARR-seq mESC enhancer starr_25477 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119653115-119653312 Neighboring gene predicted gene, 33701 Neighboring gene sodium channel, voltage-gated, type XI, alpha

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ankyrin binding ISO
Inferred from Sequence Orthology
more info
 
enables calmodulin binding ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables fibroblast growth factor binding ISO
Inferred from Sequence Orthology
more info
 
enables monoatomic cation channel activity IEA
Inferred from Electronic Annotation
more info
 
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables nitric-oxide synthase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables scaffold protein binding ISO
Inferred from Sequence Orthology
more info
 
enables sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated sodium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity involved in AV node cell action potential ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity involved in Purkinje myocyte action potential ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity involved in SA node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables voltage-gated sodium channel activity involved in SA node cell action potential ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity involved in bundle of His cell action potential ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in AV node cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in AV node cell to bundle of His cell communication ISO
Inferred from Sequence Orthology
more info
 
involved_in SA node cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in atrial cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in bundle of His cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiac muscle cell action potential involved in contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cardiac ventricle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to calcium ion ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during AV node cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during Purkinje myocyte cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during SA node cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane depolarization during action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during atrial cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during bundle of His cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of epithelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of heart rate ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of sodium ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of atrial cardiac muscle cell membrane depolarization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of atrial cardiac muscle cell membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of atrial cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of cardiac muscle cell contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cardiac muscle cell contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of heart rate IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of heart rate ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of heart rate by cardiac conduction ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of sodium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in response to denervation involved in regulation of muscle adaptation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to organic cyclic compound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sodium ion import across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sodium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in sodium ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in T-tubule ISO
Inferred from Sequence Orthology
more info
 
located_in Z disc ISO
Inferred from Sequence Orthology
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in caveola ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
part_of sodium channel complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of voltage-gated sodium channel complex IC
Inferred by Curator
more info
PubMed 
part_of voltage-gated sodium channel complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
sodium channel protein type 5 subunit alpha
Names
sodium channel protein cardiac muscle subunit alpha
sodium channel protein type V subunit alpha
sodium channel, voltage-gated, type V, alpha polypeptide
voltage-gated sodium channel subunit alpha Nav1.5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001253860.1NP_001240789.1  sodium channel protein type 5 subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001240789.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) switches an exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is the same length as isoform 1 yet it has a different sequence.
    Source sequence(s)
    AC121922, AK085822, AK147254
    Consensus CDS
    CCDS57715.1
    UniProtKB/Swiss-Prot
    E9Q1D2, Q3UH91, Q9JJV9
    UniProtKB/TrEMBL
    K3W4N7
    Related
    ENSMUSP00000066228.7, ENSMUST00000065196.13
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9551203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:485667
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17971844
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. NM_021544.4NP_067519.2  sodium channel protein type 5 subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_067519.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AK085822, AK147254
    Consensus CDS
    CCDS52965.1
    UniProtKB/Swiss-Prot
    E9Q1D2, Q3UH91, Q9JJV9
    UniProtKB/TrEMBL
    A0A0R4J1M7
    Related
    ENSMUSP00000112838.2, ENSMUST00000117911.8
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12251482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9551203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:485577
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17951852
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    119312470..119408096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511997.1XP_006512060.1  sodium channel protein type 5 subunit alpha isoform X4

    See identical proteins and their annotated locations for XP_006512060.1

    UniProtKB/Swiss-Prot
    E9Q1D2, Q3UH91, Q9JJV9
    UniProtKB/TrEMBL
    K3W4N7
    Related
    ENSMUSP00000113272.2, ENSMUST00000120420.2
    Conserved Domains (5) summary
    cd13433
    Location:14741526
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12071482
    Ion_trans; Ion transport protein
    pfam06512
    Location:9551203
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:485667
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:17971844
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  2. XM_006511996.1XP_006512059.1  sodium channel protein type 5 subunit alpha isoform X3

    UniProtKB/TrEMBL
    A0A0R5RP31
    Conserved Domains (5) summary
    cd13433
    Location:14851537
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12181493
    Ion_trans; Ion transport protein
    pfam06512
    Location:10201214
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:550732
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:18081855
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  3. XM_006511995.1XP_006512058.1  sodium channel protein type 5 subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    E9Q1D2, Q3UH91, Q9JJV9
    Conserved Domains (5) summary
    cd13433
    Location:15381590
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12711546
    Ion_trans; Ion transport protein
    pfam06512
    Location:10201267
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:550732
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:18611908
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
  4. XM_006511993.1XP_006512056.1  sodium channel protein type 5 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    E9Q1D2, Q3UH91, Q9JJV9
    Conserved Domains (5) summary
    cd13433
    Location:15391591
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12721547
    Ion_trans; Ion transport protein
    pfam06512
    Location:10201268
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:550732
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:18621909
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated